254062008: Spondyloepimetaphyseal disorder (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

378211012 Spondyloepimetaphyseal disorder en Synonym Active Entire term case insensitive SNOMED CT core module

644902011 Spondyloepimetaphyseal disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3035816013 Spondyloepimetaphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal disorder	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal disorder	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal disorder	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal disorder	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal disorder	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal disorder	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive spondyloepimetaphyseal dysplasia	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Namaqualand hip dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Progressive pseudorheumatoid dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Immuno-osseous dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Opsismodysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia tarda	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Dyggve-Melchior-Clausen syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Sponastrime dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Micromelic spondyloepimetaphyseal dysplasia	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Smith McCort dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Missouri type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Shohat type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia aggrecan type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia matrilin-3 type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Irapa type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Czech dysplasia metatarsal type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Handigodu type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Cono-spondylar dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia with multiple dislocations	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
X-linked spondyloepimetaphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Bieganski type	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Golden type	Is a	False	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia Isidor type	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia with congenital joint dislocations	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Otospondylomegaepiphyseal dysplasia	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Rolland-Debuqois syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome	Is a	True	Spondyloepimetaphyseal disorder	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378211012	Spondyloepimetaphyseal disorder	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
644902011	Spondyloepimetaphyseal disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3035816013	Spondyloepimetaphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module